Canonical Allele Identifier: CA7183925
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs758520596
ExAC: 14:51411091 G / T
gnomAD v2: 14-51411091-G-T
gnomAD v4: 14-50944373-G-T
MyVariant Identifiers: chr14:g.51411091G>T (hg19) chr14:g.50944373G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944373G>T , CM000676.2:g.50944373G>T GRCh38
NC_000014.8:g.51411091G>T , CM000676.1:g.51411091G>T GRCh37
NC_000014.7:g.50480841G>T NCBI36
NG_012796.1:g.5158C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.31C>A MANE Select ENSP00000216392.7:p.Arg11=
ENST00000216392.7:c.31C>A ENSP00000216392.7:p.Arg11=
ENST00000530336.2:n.98C>A
ENST00000532462.5:c.31C>A ENSP00000431657.1:p.Arg11=
ENST00000544180.6:c.31C>A ENSP00000443787.1:p.Arg11=
NM_001163940.1:c.31C>A NP_001157412.1:p.Arg11=
NM_002863.4:c.31C>A NP_002854.3:p.Arg11=
NM_002863.5:c.31C>A MANE Select NP_002854.3:p.Arg11=
NM_001163940.2:c.31C>A NP_001157412.1:p.Arg11=
Search 100 bp 5'
Search 100 bp 3'